The Genomics Boom Has Begun

March 1, 2017

Step 1 – Cheap Genomes

This year, the wholesale cost to sequence a full human genome, including labor, will fall below $500. Meanwhile, the retail cost has already dropped below the key $1000 price point.

A year ago, Veritas Genetics began offering full genomes for $999. Meanwhile, a full human exome (the key coding part of the genome) costs only $149 at Helix.com.

Ten years ago, a full genome would have cost $10 million – which means we have seen a 20,000x cost improvement for genomic sequencing over the past decade, a rate roughly 200 times faster than the pace of exponential progress described by Moore’s Law.

If the current pace is maintained, the tech cost per genome will be less than a single dollar by 2020. But, unless one can eliminate human labor from the equation, then we’re likely looking at a $50 floor; that is, until we have access to cheap home tests or the testing equipment is built into our hand-held devices.

Today, fewer than 1 million human genomes have been sequenced worldwide, representing about 0.015% of the global population. Over the next three years, genomes will become affordable for over 60% of the global population. In other words, access is about to explode – and at a rate faster than the global cellphone boom of the 2000s.

Since cost will no longer hinder adoption, the only remaining questions relate to demand – i.e. what is the value of sequencing one’s genome? What benefits do we get with access to our genomic information?

Life and death often hinge on a single gene variant. Look at Angelina Jolie who rationally opted for a preventative double mastectomy based upon her BRCA1/2 results, which gave her a high likelihood of developing breast cancer.

Genomics answers many questions, both medical and non-medical. Are you a risk taker (DRD4 variant)? Who are you attracted to on a chemical/pheromone level (HLA variant)? Should you play power sports or endurance sports (ACTN2/3 variant)? Are you immune to HIV infection (CCR5 variant)? The list of known gene variants and what they do is already impressive.

This knowledge has obvious utility far beyond its cost. It allows us to make proactive decisions about our health, diet, profession, recreation, and everyday lifestyle that fit best with our genomic programming.

But individual genome sequencing is only step one. Step two digs into human subtleties that result from multiple genes acting in combination. Things like personality, temperament, and complex skills.

Step 2 – Population Studies

Once you have millions of genome sequences to compare, you can do advanced population studies. For example, one can ask: what genomic traits do all top racecar drivers have in common? It would not be a surprise if they had the “daredevil” variant of DRD4, the endurance variant of ACTN2/3, superior hand-eye coordination and spatial awareness, and fast reflexes. In a slightly different combination, these traits might be common to the best emergency room surgeons.

By utilizing big data, population studies should reveal the function of individual genes that we still don’t fully understand, as well as determine the combination effects that multiple genes produce together. This knowledge should help inform some of our most complex decisions, such as choosing a career path or a romantic partner best suited to our personality.

In this way, population studies create a network effect – genomic information becomes more complete and thus more valuable as more people participate.

A fuller understanding of our genome’s subtleties sets the stage for step three. Once our genomes are fully read and well understood, what if we don’t like the story it tells? What if it says we are prone to cancer or addiction or depression? Well, that’s when individuals might choose to make changes. And that’s where things really get interesting…

Step 3 – Writing Code

Humans have been altering their genomes since their early existence through diet, medicine, and most obviously when choosing a mate (and thus the combination of genes that go into their children.) Then, about 10,000 years ago, they began altering plant and animal genomes, through breeding, to improve agricultural output.

Our genomic interventions have become smarter and more targeted as technology has improved. Vaccines are a prime example, as a technology that permanently alters the genes (specifically the variable chain regions) of our white blood-cells.

There are other common ways people systemically alter their gene expression – lifestyle choices like diet, exercise, smoking, etc. These mostly represent changes to one’s epigenome. If genomics is a loaded gun, then epigenomics is the safety switch; it is the on/off positioning of our genes, which is strongly influenced by situation and environment.

Together, genomics and epigenomics are simply code, the operating system that runs a cell. Thousands of new genomes are developed by microbiologists every day in bacteria and yeast. These single-celled organisms are the simplest of “hardware” when it comes to programming biology.

A new tool for writing and editing genomes was discovered in 2009, called CRISPR/Cas9. This system radically improves the efficiency with which microbiologists can alter code and test changes – an improvement that was desperately needed when dealing with the massive genomes associated with human and animal life. This new tool, along with other new code reading and writing technologies, have made rapid and accurate gene edits a reality.

The bottom line is that, like your computer’s operating system, targeted patches and upgrades are coming to the human genome. The low hanging fruit will be cures for diseases caused by single gene mutations like cystic fibrosis, sickle cell anemia, and Duchenne muscular dystrophy.

As cures are developed for simple genetic conditions, researchers will naturally move towards the more complex, and by that point our definitions of health and disease will likely begin to shift. If “health” is defined by one’s ability to recover from physical insult like injury and infection, or to operate near one’s peak physical and mental abilities, then virtually everyone over the age of 25 (the year at which most humans hit cell birth/death equilibrium) is in some stage of health decline.

Ultimately, and much sooner than most expect, our genomes will be upgraded beyond what we currently consider disease remediation. Those upgrades will include halting and reversing the effects of old age which, for many Baby Boomers and even Gen-Xers, is becoming a top-of-mind priority.

Investment Opportunities

We not only expect massive upgrades to our health, but to our wealth. Health, life, and longevity are fundamental human drives. The companies reading our core code and writing and delivering the upgrades should explode in value as entirely new therapeutic industries emerge.

Cheap genomes are just the beginning of the genomics boom that we’ll see over the next ten years. They were the necessary starting point and, now that they’ve arrived, we’ve reached a critical tipping point for the pharmaceutical, nutrition, and lifestyle companies that tailor products to fit individual genomic makeups.

If you are interested in participating in the truly transformational returns to come, think about joining ushere at DNA Investor.

Matt Demeter

Our Philosophy

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